Canonical Allele Identifier: CA745188

Gene: YARS1

Linked Data

• ClinVar Variation Id: 284760
• ClinVar RCV Id: RCV000361009 ; RCV000377682 ; RCV000725523 ; RCV001080452
• dbSNP Id: rs201272488
• ExAC: 1:33272073 C / G
• gnomAD v2: 1-33272073-C-G
• gnomAD v3: 1-32806472-C-G
• gnomAD v4: 1-32806472-C-G
• MyVariant Identifiers: chr1:g.33272073C>G (hg19) ; chr1:g.32806472C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32806472C>G , CM000663.2:g.32806472C>G	GRCh38
NC_000001.10:g.33272073C>G , CM000663.1:g.33272073C>G	GRCh37
NC_000001.9:g.33044660C>G	NCBI36
NG_008408.1:g.16561G>C , LRG_273:g.16561G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675785.2:c.363+10G>C	ENSP00000502019.1:n.363+10G>C
ENST00000373477.9:c.510+10G>C MANE Select	ENSP00000362576.4:n.510+10G>C
ENST00000481895.6:c.510+10G>C	ENSP00000502016.1:n.510+10G>C
ENST00000616261.2:c.510+10G>C	ENSP00000484192.2:n.510+10G>C
ENST00000674629.1:c.*58+10G>C	ENSP00000502470.1:n.*58+10G>C
ENST00000674654.1:c.380+4119G>C	ENSP00000501729.1:n.380+4119G>C
ENST00000675785.1:c.363+10G>C	ENSP00000502019.1:n.363+10G>C
ENST00000676297.1:c.510+10G>C	ENSP00000501596.1:n.510+10G>C
ENST00000373477.8:c.510+10G>C	ENSP00000362576.4:n.510+10G>C
ENST00000470377.1:n.99+10G>C
ENST00000481895.5:n.583+10G>C
ENST00000616261.1:c.510+10G>C	ENSP00000484192.1:n.510+10G>C
NM_003680.3:c.510+10G>C , LRG_273t1:c.510+10G>C	NP_003671.1:n.510+10G>C
XM_011542347.1:c.-121+10G>C	XP_011540649.1:n.-121+10G>C
XM_011542348.1:c.-168+10G>C	XP_011540650.1:n.-168+10G>C
XM_011542347.2:c.-121+10G>C	XP_011540649.1:n.-121+10G>C
XM_017002651.2:c.-168+10G>C	XP_016858140.1:n.-168+10G>C
NM_003680.4:c.510+10G>C MANE Select	NP_003671.1:n.510+10G>C